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Three DNA markers for hypophosphataemic rickets.

P S Rowe·A P Read·R Mountford·F Benham·T A Kruse·G Camerino·K E Davies·J L O'Riordan
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Abstract

This paper presents three markers, 16D/E, pHMAI (DXS208), and CRI-L1391 (DXS274), that show close linkage for X-linked hypophosphataemic rickets (HYP). DXS274 is closely linked to HYP (theta max = 0.00, Zmax = 4.20), and DXS41 (99.6), (theta max = 0.00, Zmax = 5.20). Marker 16D/E maps distal to the disease locus (theta max = 0.05, Zmax = 3.11). The pHMAI probe recognises the same restriction fragment length polymorphism (RFLP) as 99.6. Multipoint analysis suggests that the most probable order of loci is Xpter-(DXS43, 16D/E)-HYP-DXS274-(DXS208, DXS41)-Xcen. The location of DXS274 distal to HYP cannot be excluded, as no recombinants were observed between DXS274 and HYP, or between DXS274 and DXS41/DXS208. One of the families contains a large number of recombinants, four of which are double recombinants. This most probably means that the disease in this family maps elsewhere on the X chromosome or on an autosome, indicating locus heterogeneity.

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Blotting, SouthernChromosome AberrationsFemaleGenetic LinkageGenetic MarkersGenetic VariationHumansHypophosphatemia, FamilialLod ScoreMalePolymorphism, Restriction Fragment LengthRestriction MappingX ChromosomeJournal ArticleResearch Support, Non-U.S. Gov't

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P S Rowe, A P Read, R Mountford, F Benham, T A Kruse, G Camerino, K E Davies, J L O'Riordan. 1992. Three DNA markers for hypophosphataemic rickets.. https://doi.org/10.1007/bf00219180

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